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EYA2 EYA transcriptional coactivator and phosphatase 2 [ Homo sapiens (human) ]

Gene ID: 2139, updated on 3-Dec-2024

Summary

Official Symbol
EYA2provided by HGNC
Official Full Name
EYA transcriptional coactivator and phosphatase 2provided by HGNC
Primary source
HGNC:HGNC:3520
See related
Ensembl:ENSG00000064655 MIM:601654; AllianceGenome:HGNC:3520
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EAB1
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
Expression
Broad expression in endometrium (RPKM 9.8), prostate (RPKM 9.3) and 17 other tissues See more
Orthologs
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Genomic context

See EYA2 in Genome Data Viewer
Location:
20q13.12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46894843..47188844)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (48632937..48926940)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (45523482..45817492)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 33 Neighboring gene ribosomal protein L13 pseudogene 14 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:45529211-45530410 Neighboring gene NANOG hESC enhancer GRCh37_chr20:45548266-45548793 Neighboring gene EYA2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45572445-45573138 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:45573832-45574524 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45663821-45664320 Neighboring gene MPRA-validated peak4229 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45754363-45754876 Neighboring gene Sharpr-MPRA regulatory region 12423 Neighboring gene ribosomal protein S2 pseudogene 54 Neighboring gene microRNA 3616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17980 Neighboring gene Sharpr-MPRA regulatory region 5760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45836841-45837466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45837467-45838090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45863077-45863577 Neighboring gene zinc finger MYND-type containing 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45881941-45882441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45904588-45905088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45905089-45905589 Neighboring gene Sharpr-MPRA regulatory region 15539 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:45945484-45946683 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947067-45947983 Neighboring gene uncharacterized LOC100131496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947984-45948902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45950739-45951656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45957753-45958400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45959988-45960488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45964446-45965285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45965286-45966124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45968129-45968628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45971039-45971820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45974595-45975341 Neighboring gene uncharacterized LOC101927377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17984

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC10614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone H2AXY142 phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables non-membrane spanning protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein tyrosine phosphatase activity, metal-dependent IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
involved_in mesodermal cell fate specification TAS
Traceable Author Statement
more info
PubMed 
involved_in mitochondrial outer membrane permeabilization IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
eyes absent homolog 2
NP_005235.3
NP_742108.2
XP_005260384.1
XP_016883210.1
XP_047295966.1
XP_054179166.1
XP_054179167.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011673.2 RefSeqGene

    Range
    4974..298975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005244.5NP_005235.3  eyes absent homolog 2 isoform a

    See identical proteins and their annotated locations for NP_005235.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as EYA2I, represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL022342, AL121776, AL354766, AL359434
    Consensus CDS
    CCDS13403.1
    UniProtKB/Swiss-Prot
    O00167, Q5JSW8, Q86U84, Q96CV6, Q96H97, Q99503, Q99812, Q9BWF6, Q9H4S3, Q9H4S9, Q9NPZ4, Q9UIX7
    UniProtKB/TrEMBL
    A8KAG7
    Related
    ENSP00000333640.5, ENST00000327619.10
    Conserved Domains (2) summary
    TIGR01658
    Location:267538
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:269514
    Hydrolase; haloacid dehalogenase-like hydrolase
  2. NM_172110.4NP_742108.2  eyes absent homolog 2 isoform c

    See identical proteins and their annotated locations for NP_742108.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    BC013882
    Consensus CDS
    CCDS54471.1
    UniProtKB/TrEMBL
    A8KAG7
    Related
    ENSP00000349986.3, ENST00000357410.7
    Conserved Domains (1) summary
    TIGR01658
    Location:267459
    EYA-cons_domain; eyes absent protein conserved domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    46894843..47188844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027721.3XP_016883210.1  eyes absent homolog 2 isoform X2

    UniProtKB/TrEMBL
    E7ETN2, Q66T69
    Related
    ENSP00000483392.1, ENST00000611592.4
  2. XM_005260327.3XP_005260384.1  eyes absent homolog 2 isoform X3

    UniProtKB/TrEMBL
    A8KAG7
    Conserved Domains (2) summary
    TIGR01658
    Location:185456
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:187432
    Hydrolase; haloacid dehalogenase-like hydrolase
  3. XM_047440010.1XP_047295966.1  eyes absent homolog 2 isoform X1

    UniProtKB/Swiss-Prot
    O00167, Q5JSW8, Q86U84, Q96CV6, Q96H97, Q99503, Q99812, Q9BWF6, Q9H4S3, Q9H4S9, Q9NPZ4, Q9UIX7
    UniProtKB/TrEMBL
    A8KAG7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    48632937..48926940
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323191.1XP_054179166.1  eyes absent homolog 2 isoform X2

    UniProtKB/TrEMBL
    E7ETN2, Q66T69
  2. XM_054323192.1XP_054179167.1  eyes absent homolog 2 isoform X3

    UniProtKB/TrEMBL
    A8KAG7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172111.1: Suppressed sequence

    Description
    NM_172111.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_172112.1: Suppressed sequence

    Description
    NM_172112.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_172113.1: Suppressed sequence

    Description
    NM_172113.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.